Disorders of transcriptional regulation: an emerging category of multiple malformation syndromes
K Izumi - Molecular syndromology, 2016 - karger.com
Some genetic disorders caused by mutations in genes encoding components of the
transcriptional machinery as well as proteins involved in epigenetic modification of the …
transcriptional machinery as well as proteins involved in epigenetic modification of the …
Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with
autosomal dominant, recessive, or X-linked inheritance. They are characterized by …
autosomal dominant, recessive, or X-linked inheritance. They are characterized by …
De novo missense substitutions in the gene encoding CDK8, a regulator of the mediator complex, cause a syndromic developmental disorder
E Calpena, A Hervieu, T Kaserer… - The American Journal of …, 2019 - cell.com
The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple
steps of transcription. Mediator activity is regulated by the reversible association of a four …
steps of transcription. Mediator activity is regulated by the reversible association of a four …
[HTML][HTML] Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
R Asadollahi, M Zweier, L Gogoll, R Schiffmann… - European journal of …, 2017 - Elsevier
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID)
and dextro-looped transposition of great arteries in 2003, we previously described a …
and dextro-looped transposition of great arteries in 2003, we previously described a …
Bailey-Bloch congenital myopathy in Brazilian patients: a very rare myopathy with malignant hyperthermia susceptibility
GRF Gomes, TC Mariano, VLL Braga, EM Ribeiro… - Brain Sciences, 2023 - mdpi.com
Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital
myopathy and Native American myopathy (NAM), is a condition caused by biallelic …
myopathy and Native American myopathy (NAM), is a condition caused by biallelic …
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral …
Background VCP (valosin-containing protein gene) variants have been associated with
peripheral and central neurodegenerative processes, including inclusion body myopathy …
peripheral and central neurodegenerative processes, including inclusion body myopathy …
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little
is known about the role of autosomal recessive traits. In a field study performed in a highly …
is known about the role of autosomal recessive traits. In a field study performed in a highly …
Transcription pause and escape in neurodevelopmental disorders
KN Eigenhuis, HB Somsen… - Frontiers in …, 2022 - frontiersin.org
Transcription pause-release is an important, highly regulated step in the control of gene
expression. Modulated by various factors, it enables signal integration and fine-tuning of …
expression. Modulated by various factors, it enables signal integration and fine-tuning of …
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
YR Mir, RAH Kuchay - Journal of medical genetics, 2019 - jmg.bmj.com
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%–
3% of the general population. The number of ID-causing genes is high. Many X-linked …
3% of the general population. The number of ID-causing genes is high. Many X-linked …
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional
regulation. Biallelic MED27 variants have recently been suggested to be responsible for an …
regulation. Biallelic MED27 variants have recently been suggested to be responsible for an …